22q13 Deletion Syndrome

Common Name(s)

22q13 Deletion Syndrome, Phelan-McDermid syndrome

22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a rare genetic condition. This condition results from a mutation or error in a person’s DNA or genes. This can cause birth defects such as decreased sensitivity to pain, reduced ability to sweat, or decreased muscle strength, as well as autistic-like behavior and developmental delays. Although there is currently no cure for 22q13 deletion syndrome, there are various resources to help manage the condition and treat birth defects such as oral-motor therapy, physical and occupational therapy, and augmented communication strategies. There are about 600 cases known. Doctors seek help from various therapists and community services to provide support and care for families affected by 22q13 deletion syndrome. There are about 600 cases known.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "22q13 Deletion Syndrome" for support, advocacy or research.

Chromosome 22 Central

Our mission is to provide support and information to families or individuals affected by disorders of chromosome 22.

Last Updated: 11 May 2014

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Phelan-McDermid Syndrome Foundation

It is the mission of the Phelan-McDermid Syndrome Foundation to improve the quality of life of people affected by PMS worldwide by providing family support, accelerating research and raising awareness.

Last Updated: 12 Dec 2012

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Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

Last Updated: 21 Jul 2014

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "22q13 Deletion Syndrome" for support, advocacy or research.

Chromosome 22 Central

Our mission is to provide support and information to families or individuals affected by disorders of chromosome 22.

http://www.c22c.org

Last Updated: 11 May 2014

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Phelan-McDermid Syndrome Foundation

It is the mission of the Phelan-McDermid Syndrome Foundation to improve the quality of life of people affected by PMS worldwide by providing family support, accelerating research and raising awareness.

http://www.pmsf.org

Last Updated: 12 Dec 2012

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Unique - Understanding Chromosome Disorders

Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.

http://www.rarechromo.org

Last Updated: 21 Jul 2014

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General Support Organizations

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General Resources

Little Yellow Book

A parents guide to rare chromosome disorders

Updated 4 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "22q13 Deletion Syndrome" returned 10 free, full-text research articles on human participants. First 3 results:

Clinical utility gene card for: deletion 22q13 syndrome.
 

Author(s): Katy Phelan, Catalina Betancur

Journal: Eur. J. Hum. Genet.. 2011 Apr;19(4):.

 

Last Updated: 17 Mar 2011

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22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.
 

Author(s): S U Dhar, D del Gaudio, J R German, S U Peters, Z Ou, P I Bader, J S Berg, M Blazo, C W Brown, B H Graham, T A Grebe, S Lalani, M Irons, S Sparagana, M Williams, J A Phillips, A L Beaudet, P Stankiewicz, A Patel, S W Cheung, T Sahoo

Journal: Am. J. Med. Genet. A. 2010 Mar;152A(3):573-81.

 

The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. Few genotype-phenotype correlations have been found but all patients have mental retardation and severe delay, or absence of, expressive speech. We carried out clinical and molecular characterization ...

Last Updated: 1 Mar 2010

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Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor.
 

Author(s): Shyam Sathyamoorthi, Jaime Morales, Jose Bermudez, Lori McBride, Mark Luquette, Robin McGoey, Nora Oates, Stephen Hales, Jaclyn A Biegel, Yves Lacassie

Journal: Am. J. Med. Genet. A. 2009 May;149A(5):1067-9.

 

Last Updated: 4 May 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "22q13 Deletion Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Trial in 22q13 Deletion Syndrome(Phelan-McDermid Syndrome)
 

Status: Recruiting

Condition Summary: 22q13 Deletion Syndrome; Phelan-McDermid Syndrome

 

Last Updated: 17 Dec 2013

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Last Updated: 27 Jun 2014

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